ClinVar for MedGen (Select 863093) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805010	NM_002880.4(RAF1):c.582-8T>G	RAF1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1NN	GUncertain significance
Select item 1802975	NM_002880.4(RAF1):c.834+662G>T	RAF1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1NN	GUncertain significance
Select item 1675117	NM_002880.4(RAF1):c.161C>A (p.Thr54Lys)	RAF1 (Q11K +1 more)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 2 +2 more	GUncertain significance
Select item 1174673	NM_002880.4(RAF1):c.834+598G>A	RAF1	Single nucleotide variant (intron variant +1 more)	Noonan syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 903301	NM_002880.4(RAF1):c.-59C>G	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	LEOPARD syndrome 2 +2 more	GUncertain significance
Select item 900848	NM_002880.4(RAF1):c.-264C>G	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1NN +2 more	GUncertain significance
Select item 899385	NM_002880.4(RAF1):c.*643C>G	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1NN +2 more	GUncertain significance
Select item 842131	NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp)	RAF1 (G407D +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +3 more	GUncertain significance
Select item 624212	NM_002880.4(RAF1):c.236A>G (p.His79Arg)	RAF1 (H79R)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1NN +1 more	GUncertain significance
Select item 620618	NM_002880.4(RAF1):c.31A>T (p.Ile11Phe)	RAF1 (I11F)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 517341	NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn)	RAF1 (K590N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 496189	NM_002880.4(RAF1):c.788T>A (p.Val263Asp)	RAF1 (V263D +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +5 more	GPathogenic/Likely pathogenic
Select item 448929	NM_002880.4(RAF1):c.581+4A>G	RAF1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 432929	NM_002880.4(RAF1):c.601A>G (p.Ile201Val)	RAF1 (I201V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 393135	NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser)	RAF1 (P623S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 372647	NM_002880.4(RAF1):c.482A>G (p.Asn161Ser)	RAF1 (N161S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 343108	NM_002880.4(RAF1):c.-181T>C	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1NN +2 more	GUncertain significance
Select item 265535	NM_002880.4(RAF1):c.505G>C (p.Gly169Arg)	RAF1 (G169R +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +4 more	GPathogenic/Likely pathogenic
Select item 197747	NM_002880.4(RAF1):c.438C>A (p.Phe146Leu)	RAF1 (F146L +1 more)	Single nucleotide variant (missense variant +1 more)	RAF1-related condition +5 more	GUncertain significance
Select item 181514	NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln)	RAF1 (R627Q +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1NN +2 more	GUncertain significance
Select item 181512	NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe)	RAF1 (S605F +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 180718	NM_002880.4(RAF1):c.1113T>C (p.Asp371=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 177838	NM_002880.4(RAF1):c.-209G>A	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	LEOPARD syndrome 2 +2 more	GUncertain significance
Select item 142299	NM_002880.4(RAF1):c.709G>A (p.Ala237Thr)	RAF1 (A237T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 142298	NM_002880.4(RAF1):c.1922C>T (p.Thr641Met)	RAF1 (T641M +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1NN +3 more	GConflicting classifications of pathogenicity
Select item 142296	NM_002880.4(RAF1):c.1808T>C (p.Leu603Pro)	RAF1 (L603P +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1NN	GPathogenic
Select item 120246	NM_002880.4(RAF1):c.782C>T (p.Pro261Leu)	RAF1 (P261L +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1NN +3 more	GPathogenic/Likely pathogenic
Select item 44628	NM_002880.4(RAF1):c.435G>A (p.Thr145=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RAF1-related condition +6 more	GLikely benign
Select item 40617	NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu)	RAF1 (F475L +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1NN +3 more	GPathogenic/Likely pathogenic
Select item 40614	NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu)	RAF1 (R398L +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance FDA Recognized database
Select item 40605	NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)	RAF1 (P261A +3 more)	Single nucleotide variant (missense variant +1 more)	RAF1-related condition +7 more	GPathogenic/Likely pathogenic
Select item 40576	NM_002880.4(RAF1):c.-204G>C	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40573	NM_002880.3(RAF1):c.-340_-339GA[1]	RAF1	Microsatellite	RASopathy	GBenign FDA Recognized database
Select item 13957	NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	RAF1 (S257L +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database

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Items: 34